Linked Data
ClinVar Variation Id:
1144898
ClinVar RCV Id:
RCV001483557
dbSNP Id:
rs1570464811
gnomAD v4:
1-43338662-G-A
MyVariant Identifiers:
chr1:g.43804333G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338662G>A , CM000663.2:g.43338662G>A | GRCh38 |
| NC_000001.10:g.43804333G>A , CM000663.1:g.43804333G>A | GRCh37 |
| NC_000001.9:g.43576920G>A | NCBI36 |
| NG_007525.1:g.5859G>A , LRG_510:g.5859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.333G>A MANE Select | ENSP00000361548.3:p.Val111= | |
| ENST00000413998.7:c.312G>A | ENSP00000414004.3:p.Val104= | |
| ENST00000638732.1:n.333G>A | ||
| ENST00000372470.7:c.333G>A | ENSP00000361548.3:p.Val111= | |
| ENST00000413998.6:c.333G>A | ENSP00000414004.2:p.Val111= | |
| ENST00000612993.1:c.333G>A | ENSP00000480273.1:p.Val111= | |
| NM_005373.2:c.333G>A , LRG_510t1:c.333G>A | NP_005364.1:p.Val111= | |
| XM_011541478.1:c.312G>A | XP_011539780.1:p.Val104= | |
| XM_017001320.1:c.504G>A | XP_016856809.1:p.Val168= | |
| NM_005373.3:c.333G>A MANE Select | NP_005364.1:p.Val111= |